Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 6.96811860894806e-10 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM070885)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:51009953C>TN/A show variant in all transcripts   IGV
HGNC symbol CPT1B
Ensembl transcript ID ENST00000395650
Genbank transcript ID N/A
UniProt peptide Q92523
alteration type single base exchange
alteration region CDS
DNA changes c.1591G>A
cDNA.1680G>A
g.7947G>A
AA changes E531K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 531
frameshift no
known variant Reference ID: rs470117
databasehomozygous (T/T)heterozygousallele carriers
1000G33310111344
ExAC111961037521571

known disease mutation at this position, please check HGMD for details (HGMD ID CM070885)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.5291
5.4821
(flanking)0.4971
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained79430.54mu: GCGGTCATCAAGAGT GGTC|atca
distance from splice site 16
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      531WDIPKQCQAVIESSYQVAKALADD
mutated  all conserved    531WDIPKQCQAVIKSSYQVAKAL
Ptroglodytes  all identical  ENSPTRG00000014548  531WDIPKQCQAVIESSYQVAKAL
Mmulatta  all identical  ENSMMUG00000003121  528WDIPKQCQAVIESSYQVAKAL
Fcatus  all identical  ENSFCAG00000010593  528WDIPKQCQAVIESSCRVATAL
Mmusculus  all identical  ENSMUSG00000078937  531WDIPEQCREAIENSYQVAKAL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000011589  529WQIPVECKSIIEASYVSAKR
Drerio  all identical  ENSDARG00000058285  529WDIPKACQEIIEGSYRIAKGI
Dmelanogaster  all identical  FBgn0261862  529WDL-KPCLAQIEEATID
Celegans  not conserved  Y46G5A.17  532WEIPAPALDQIRKSMEVA
Xtropicalis  all identical  ENSXETG00000015426  529WDIPPKCREVIERSYVTAKAI
protein features
start (aa)end (aa)featuredetails 
123772TOPO_DOMCytoplasmic (Potential).lost
555567REGIONCoenzyme A binding (By similarity).might get lost (downstream of altered splice site)
589589BINDINGCarnitine (By similarity).might get lost (downstream of altered splice site)
602602BINDINGCarnitine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2319 / 2319
position (AA) of stopcodon in wt / mu AA sequence 773 / 773
position of stopcodon in wt / mu cDNA 2408 / 2408
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 90 / 90
chromosome 22
strand -1
last intron/exon boundary 2325
theoretical NMD boundary in CDS 2185
length of CDS 2319
coding sequence (CDS) position 1591
cDNA position
(for ins/del: last normal base / first normal base)		 1680
gDNA position
(for ins/del: last normal base / first normal base)		 7947
chromosomal position
(for ins/del: last normal base / first normal base)		 51009953
original gDNA sequence snippet GGCAGTGCCAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC
altered gDNA sequence snippet GGCAGTGCCAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC
original cDNA sequence snippet AACAGTGCCAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC
altered cDNA sequence snippet AACAGTGCCAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC
wildtype AA sequence MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR
VSATIQRYLE SVRPLLDDEE YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE
YIYLRGRSPL MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG
IVPMCSYQME RMFNTTRIPG KDTDVLQHLS DSRHVAVYHK GRFFKLWLYE GARLLKPQDL
EMQFQRILDD PSPPQPGEEK LAALTAGGRV EWAQARQAFF SSGKNKAALE AIERAAFFVA
LDEESYSYDP EDEASLSLYG KALLHGNCYN RWFDKSFTLI SFKNGQLGLN AEHAWADAPI
IGHLWEFVLG TDSFHLGYTE TGHCLGKPNP ALAPPTRLQW DIPKQCQAVI ESSYQVAKAL
ADDVELYCFQ FLPFGKGLIK KCRTSPDAFV QIALQLAHFR DRGKFCLTYE ASMTRMFREG
RTETVRSCTS ESTAFVQAMM EGSHTKADLR DLFQKAAKKH QNMYRLAMTG AGIDRHLFCL
YLVSKYLGVS SPFLAEVLSE PWRLSTSQIP QSQIRMFDPE QHPNHLGAGG GFGPVADDGY
GVSYMIAGEN TIFFHISSKF SSSETNAQRF GNHIRKALLD IADLFQVPKA YS*
mutated AA sequence MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR
VSATIQRYLE SVRPLLDDEE YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE
YIYLRGRSPL MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG
IVPMCSYQME RMFNTTRIPG KDTDVLQHLS DSRHVAVYHK GRFFKLWLYE GARLLKPQDL
EMQFQRILDD PSPPQPGEEK LAALTAGGRV EWAQARQAFF SSGKNKAALE AIERAAFFVA
LDEESYSYDP EDEASLSLYG KALLHGNCYN RWFDKSFTLI SFKNGQLGLN AEHAWADAPI
IGHLWEFVLG TDSFHLGYTE TGHCLGKPNP ALAPPTRLQW DIPKQCQAVI KSSYQVAKAL
ADDVELYCFQ FLPFGKGLIK KCRTSPDAFV QIALQLAHFR DRGKFCLTYE ASMTRMFREG
RTETVRSCTS ESTAFVQAMM EGSHTKADLR DLFQKAAKKH QNMYRLAMTG AGIDRHLFCL
YLVSKYLGVS SPFLAEVLSE PWRLSTSQIP QSQIRMFDPE QHPNHLGAGG GFGPVADDGY
GVSYMIAGEN TIFFHISSKF SSSETNAQRF GNHIRKALLD IADLFQVPKA YS*
speed 1.20 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project